Linked Data
ClinVar Variation Id:
316133
dbSNP Id:
rs201229193
ExAC:
15:45386358 T / C
gnomAD v2:
15-45386358-T-C
gnomAD v3:
15-45094160-T-C
gnomAD v4:
15-45094160-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45094160T>C , CM000677.2:g.45094160T>C | GRCh38 |
| NC_000015.9:g.45386358T>C , CM000677.1:g.45386358T>C | GRCh37 |
| NC_000015.8:g.43173650T>C | NCBI36 |
| NG_009447.1:g.25002A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389039.11:c.4637A>G MANE Select | ENSP00000373691.7:p.Glu1546Gly | |
| ENST00000389039.10:c.4637A>G | ENSP00000373691.6:p.Glu1546Gly | |
| ENST00000603300.1:c.4637A>G | ENSP00000475084.1:p.Glu1546Gly | |
| NM_014080.4:c.4637A>G | NP_054799.4:p.Glu1546Gly | |
| XM_005254421.2:c.4637A>G | XP_005254478.1:p.Glu1546Gly | |
| NM_001363711.1:c.4637A>G | NP_001350640.1:p.Glu1546Gly | |
| NM_001363711.2:c.4637A>G MANE Select | NP_001350640.1:p.Glu1546Gly | |
| NM_014080.5:c.4637A>G | NP_054799.4:p.Glu1546Gly |